Aliases for AUP1 Gene
External Ids for AUP1 Gene
Previous GeneCards Identifiers for AUP1 Gene
The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for AUP1 Gene
AUP1 (AUP1, Lipid Droplet Regulating VLDL Assembly Factor) is a Protein Coding gene. Diseases associated with AUP1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B.
UniProtKB/Swiss-Prot for AUP1 Gene
May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.